ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.10302G>T (p.Thr3434=) (rs147402839)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710232 SCV000615525 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000339900 SCV000336848 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000339900 SCV000714661 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000357864 SCV000461307 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267900 SCV000461308 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000558633 SCV000649001 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-03 criteria provided, single submitter clinical testing

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